This week's Science features two new studies that used data from DiscovEHR — a collaboration between the Regeneron Genetics Center and the Geisinger Health System that used electronic health records (EHRs) and DNA sequencing to study genetic variation — to identify clinically relevant genetic variants. In the first study, researchers analyzed exome sequence data from more than 50,000 adults participating in DiscovEHR. They uncovered around 4.2 million rare single-nucleotide variants and insertion/deletion events, of which about 176,000 are predicted to result in a loss of gene function. By combining these data with EHR-derived clinical phenotypes, they identified clinical associations supporting therapeutic targets, including genes encoding drug targets for lipid lowering, and identify previously unidentified rare alleles associated with lipid levels and other blood level traits. In the second study, an analysis of the DiscovEHR data revealed 19 genetic variants associated with the development of familial hypercholesterolemia. Notably, about 58 percent of those carrying these gene variants were receiving a statin treatment, but only 46 percent of these individuals had cholesterol levels under the target recommended for cholesterol levels under the target recommended for FH patients. GenomeWeb has more on these studies, here.
And in Science Translational Medicine, two international research teams report data on a blood testing technique that diagnosed patients with a rare form of prion disease — even before they showed symptoms — with 100 percent sensitivity and 100 percent specificity. In the first study, protein misfolding cyclic amplification was able to identify abnormal prion proteins in blood samples from 14 individuals with variant Creutzfeldt-Jakob disease and 153 controls. In the other study, a similar technique was applied to 18 vCJD patients and 238 controls. While encouraging, the investigators note that the diagnostic method needs to be validated with a larger number of blood samples. GenomeWeb also covers this, here.